NMNAT2 - nicotinamide nucleotide adenylyltransferase 2 Gene

Also Known as PNAT2; C1orf15

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23057

About NMNAT2

Cytogenetic location: 1q25.3 Genomic coordinates (GRCh38): 1:183,248,237-183,418,380 (from NCBI)

This gene has 4 transcripts (splice variants), 212 orthologues and 2 paralogues. Biased expression in brain (RPKM 32.6), heart (RPKM 7.5) and 5 other tissues.

Summary

This gene product belongs to the nicotinamide mononucleotide adenylyltransferase (NMNAT) enzyme family, members of which catalyze an essential step in NAD (NADP) biosynthetic pathway. Unlike the Other human family member, which is localized to the nucleus, and is ubiquitously expressed; this enzyme is cytoplasmic, and is predominantly expressed in the brain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

NMNAT2 Products (2)

mRNA Protein Name
NM_015039.4 NP_055854.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 isoform 1
NM_170706.4 NP_733820.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 isoform 2

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables nicotinate-nucleotide adenylyltransferase activity IDA
IDA: Inferred from direct assay
16118205 GOA
enables protein ADP-ribosyltransferase-substrate adaptor activity IDA
IDA: Inferred from direct assay
34314702 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of cytoplasmic translation IDA
IDA: Inferred from direct assay
34314702 GOA
Cellular Component GO Annotation Evidence References Source
located in Golgi apparatus IDA
IDA: Inferred from direct assay
16118205 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NMNAT2 Protein Structure

CTP_transf_like

CTP_transf_like: Cytidylyltransferase-like (12 - 274)

  • 0
  • 100
  • 200
  • 307 a.a.
Protein Preferred Names Protein Names

nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2

  • NMN adenylyltransferase 2

Related Diseases

Diseases Alias
Wallerian Degeneration

  • Wallerian Degeneration Of The Pyramidal Tract
Erythromelalgia

  • Primary Erythromelalgia

  • Erythermalgia

  • Primary Erythermalgia

  • Mitchell Disease

  • Familial Erythromelalgia
Leber Congenital Amaurosis 9

  • LCA9

  • Leber Congenital Amaurosis, Type 9
Charcot-Marie-Tooth Disease, Axonal, Type 2e

  • Charcot-Marie-Tooth Disease Type 2

  • CMT2E

  • CMT2S

  • CMT2Y

  • Charcot-Marie-Tooth Disease Type 2e

  • Charcot-Marie-Tooth Disease Type 2y

  • Charcot-Marie-Tooth Disease Axonal Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Type 2s

  • Charcot-Marie-Tooth Disease, Type 2e

  • Hereditary Motor And Sensory Neuropathy Type 2

  • Charcot-Marie-Tooth Neuropathy, Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Type 2y

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y

  • Charcot-Marie-Tooth Neuropathy, Type 2y

  • Charcot-Marie-Tooth Disease, Type 2y

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e

  • Charcot-Marie-Tooth Neuropathy Type 2e

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation

  • Cmt2 Due To Vcp Mutation

  • Charcot-Marie-Tooth Disease Type 2s

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

  • Autosomal Dominant Axonal Charcot-Marie-Tooth Disease

  • Cmt2

  • Charcot-Marie-Tooth Neuropathy, Type 2e

  • Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type

  • Hereditary Motor And Sensory Neuropathy Okinawa Type

  • Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y

  • Charcot-Marie-Tooth Neuropathy Type 2y

  • Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s

  • Charcot-Marie-Tooth Neuropathy Type 2s

  • Charcot-Marie-Tooth Type 2

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y

  • Charcot-Marie-Tooth Disease 2e

  • Charcot-Marie-Tooth Disease Axonal Type 2e

  • Charcot-Marie-Tooth Disease Neuronal Type 2e

  • Charcot-Marie-Tooth Disease 2s

  • Charcot-Marie-Tooth Neuropathy Axonal Type 2s

  • Charcot-Marie-Tooth Disease 2y

  • Charcot-Marie-Tooth Disease, Type 2

  • Hereditary Motor And Sensory-Neuropathy Type Ii
Leber Plus Disease

  • Leber Congenital Amaurosis

  • Lca

  • Leber'S Amaurosis

  • Leber'S Disease

  • Amaurosis Congenita Of Leber

  • Amaurosis Congenita Of Leber, Type 1

  • Lhon Plus Disease

  • Congenital Absence Of The Rods And Cones

  • Congenital Retinal Blindness

  • Crb

  • Congenital Amaurosis Of Retinal Origin

  • Leber'S Congenital Amaurosis

  • Leber Congenital Amaurosis 1

  • Leber'S Congenital Tapetoretinal Degeneration

  • Leber'S Congenital Tapetoretinal Dysplasia

  • Lca1

  • Leber Congenital Amaurosis Type 1

  • Retinal Blindness, Congenital

  • Amaurosis, Leber Congenital

  • Dysgenesis Neuroepithelialis Retinae

  • Hereditary Epithelial Dysplasia Of Retina

  • Hereditary Retinal Aplasia

  • Heredoretinopathia Congenitalis

  • Leber Abiotrophy

  • Leber Congenital Tapetoretinal Degeneration

  • Lebers Congenital Amaurosis

  • Optic Atrophy, Hereditary, Leber
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS09383 NMNAT2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS18871 Nmnat2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25362 Nmnat2 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus NMNAT2 VGNC VGNC:32133
Mus musculus NMNAT2 MGD MGI:2444155
Felis catus NMNAT2 VGNC VGNC:107905
Macaca mulatta NMNAT2 VGNC VGNC:75193
Rattus norvegicus NMNAT2 RGD RGD:1307331
Canis familiaris NMNAT2 VGNC VGNC:43863
Others NMNAT2 NCBI